Mendelian

BACKGROUND: Identification of one or several disease causing variant(s) from the
large collection of variants present in an individual is often achieved by the
sequential use of heuristic filters. The recent development of whole exome
sequencing enrichment designs for several non-model species created the need for
a species-independent, fast and versatile analysis tool, capable of tackling a
wide variety of standard and more complex inheritance models. With this aim, we
developed "Mendelian", an R-package that can be used for heuristic variant
filtering. RESULTS: The R-package Mendelian offers fast and convenient filters to
analyze putative variants for both recessive and dominant models of inheritance,
with variable degrees of penetrance and detectance. Analysis of trios is
supported. Filtering against variant databases and annotation of variants is also
included. This package is not species specific and supports parallel computation.
We validated this package by reanalyzing data from a whole exome sequencing
experiment on intellectual disability in humans. In a second example, we
identified the mutations responsible for coat color in the dog. This is the first
example of whole exome sequencing without prior mapping in the dog. CONCLUSION:
We developed an R-package that enables the identification of disease-causing
variants from the long list of variants called in sequencing experiments. The
software and a detailed manual are available at
https://github.com/BartBroeckx/Mendelian.

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors.

Mendelian is an R tool to identify disease causing variants from a collection of variants from a list or from a database. The Mendelian algorithm detects dominant and recessive variants, penetranbce, and detectance.

Mendelian

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